• Brittany M Scarpato, Jamie McDonald, Pinar Bayrak-Toydemir, C Gregory Elliott, Barbara C Cahill, Lyska L Emerson, and Lynn M Keenan.
• Division of Pulmonary and Critical Care Medicine, University of Utah Hospital, Salt Lake City, UT; Division of Pulmonary and Critical Care Medicine, Intermountain Medical Center, Murray, UT. Electronic address: brittany.scarpato@hsc.utah.edu.
• Chest. 2023 May 1; 163 (5): e201e205e201-e205.

AbstractPulmonary arteriovenous malformations (PAVMs) are rare and most often identified in patients with hereditary hemorrhagic telangiectasia (HHT). We describe a patient with severe hypoxemia and orthodeoxia with imaging findings consistent with PAVMs. Resected lung pathologic findings confirmed the presence of numerous microscopic vascular abnormalities within the right lower lobe that was consistent with diffuse pulmonary arteriovenous shunts. Family history was negative for HHT but was positive for pulmonary arterial hypertension (PAH) in two second-degree relatives. A vascular malformation gene panel was negative for genes that commonly are associated with HHT but identified a pathogenic variant in the gene encoding bone morphogenetic protein receptor-2 (BMPR2 p.Cys123∗). Pathogenic variants in BMPR2 are a well-known cause of hereditary PAH; there have been several reports to date of patients with PAVMs and PAH. However, this is the first patient to be reported with a pathogenic variant in BMPR2 to have PAVMs in isolation.Copyright © 2023 American College of Chest Physicians. All rights reserved.

26 keywords...

hide…